PRDM8
PRDM8 is a protein that belongs to a conserved family of histone methyltransferases that predominantly act as negative regulators of transcription. The encoded protein contains an N-terminal Su(var)3-9, Enhancer-of-zeste, and Trithorax (SET) domain and a double zinc-finger domain. Knockout of this gene in mouse results in mistargeting by neurons of the dorsal telencephalon, abnormal itch-like behavior, and impaired differentiation of rod bipolar cells. In humans, the protein has been shown to interact with the phosphatase laforin and the ubiquitin ligase malin, which regulate glycogen construction in the cytoplasm.
Full Name
PR/SET Domain 8
Function
Probable histone methyltransferase, preferentially acting on 'Lys-9' of histone H3 (By similarity).
Involved in the control of steroidogenesis through transcriptional repression of steroidogenesis marker genes such as CYP17A1 and LHCGR (By similarity).
Forms with BHLHE22 a transcriptional repressor complex controlling genes involved in neural development and neuronal differentiation (By similarity).
In the retina, it is required for rod bipolar and type 2 OFF-cone bipolar cell survival (By similarity).
Biological Process
MethylationIEA:UniProtKB-KW
Oligodendrocyte developmentManual Assertion Based On ExperimentIBA:GO_Central
Regulation of transcription, DNA-templatedManual Assertion Based On ExperimentIBA:GO_Central
Cellular Location
Nucleus
Involvement in disease
Epilepsy, progressive myoclonic 10 (EPM10):
A form of progressive myoclonic epilepsy, a clinically and genetically heterogeneous group of disorders defined by the combination of action and reflex myoclonus, other types of epileptic seizures, and progressive neurodegeneration and neurocognitive impairment. EPM10 is an autosomal recessive form characterized by progressive dysarthria, myoclonus, ataxia, cognitive decline, psychosis, dementia and spasticity, with onset in childhood. There is variability between patients.
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